Pseudohypoparathyroidism Type 1B
Disease ID: disease_node_17540
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:10680, MIM:603233, ORDO:94089 |
|---|---|
| Subclassof | DOID_4184 |
| Data Source | DOID |
| Synonyms | PHP Ib |
| Doid Label | pseudohypoparathyroidism type 1B |
| Doid Description | A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32. Mutations in GNAS, GNAS-AS1, and STX16 have been shown to alter the methylation pattern of GNAS. MeSH obsoleted this term and ID, merged with parent term.[LS] |
| Disease Node Id | disease_node_17540 |
| Doid Id | DOID_0080222 |
| Label | Pseudohypoparathyroidism Type 1B |
- Outgoing r'ship
SUBCLASS_OFto/from Pseudohypoparathyroidism(ID:disease_node_6380) (Disease)